Active discussions

Meet the Other Phone. Only the apps you allow.

Meet the Other Phone.
Only the apps you allow.

Buy now

Please or to access all these features

Talk
Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

Original poster

High risk for trisomy 18 - Edwards' syndrome

28 replies

whinegums · 12/02/2008 17:32

Hi. My consultant called this afternoon to say my blood screening result (at 19+5, done 2 weeks ago) had come back with a very high risk for trisomy 18 - 1 in 42.

Risk for Downs was less than 1 in 8000, v v low, abnormally so, for my age - 35. I'm booked for a detailed scan on Thursday, and I know there won't be any definite answers til then at the earliest (41 in 42 chance of everything being ok), but I'm just freaking out a bit.

If anyone has any experience of this, I'd be so grateful to hear from them.

Is the Downs risk so low because my baby definitely does have Edwards'? There didn't appear to be any soft markers on the scan I had at 19 weeks - heart all looked absolutely fine, and the sonographer said everything else was 'lovely.' Would something have shown up then for a baby with Edwards'? At least one thing? Having had a look through a lot of info on the net (fast reader!) it seems 90% would have a heart defect; and also high incidence of other disorders. I keep looking at my scan pics, but of course I can't see anything.

OP posts:
Rhubarb · 12/02/2008 17:38

If your baby had Edwards' Syndrome they would have usually seen water around the brain on the scan.

You will know more at your detailed scan. But for now I wouldn't panic too much. There is no definite way of telling if a baby has Edwards or not, but as a syndrome it is very very rare indeed. Yet if you look up the incidences of doctors telling women that their babies might have this, that statistic would be very high. I don't know why but it seems that quite a few pregnant women get told they are a risk for this.

Don't panic.

PortAndLemon · 12/02/2008 18:00

It depends on which screening test they did exactly what they measured, but the blood test will have looked (possibly among other things) at levels of AFP, hCG and estriol.

A high-risk Down's Syndrome result will typically have unusually low levels of AFP and estriol but unusually high levels of hCG. A high-risk Trisomy 18 result will typically have unusually low levels of all three.

So your Down's risk isn't low because your baby definitely has Edwards'. It'll (probably, not having seen your results) be low because you had relatively low levels of hCG, and that is very unlikely with Down's (where you would expect hCG levels to be abnormally high).

I am not an expert by any means, and there are no guarantees, but I would have expected something to show up on the 19 week scan if your baby did have Edwards' Syndrome.

bundle · 12/02/2008 18:09

i had a high risk from my bloods of Edwards Syndrome with my second pregnancy too.

my consultant did an amnio for me and kept saying what beautiful fingers/toes my baby had - often Edwards babies have crossed digits/talipes, though not always.

my result came out fine, but I was glad I had teh test.

CAT me if you need any more info ,xxx

justjules · 12/02/2008 18:15

This reply has been deleted

Message withdrawn at poster's request.

cece · 12/02/2008 18:18

Can I suugest you contact ARC which is a charity that advises about antenatal testing. They were lovely when I phoned them followng a high risk of Down's screening.

callmeovercautious · 12/02/2008 18:21

My Sister had a similar test result and her DS is absolutely fine (if you can excuse the 4 year old tantrums he can throw ).

Original poster
whinegums · 12/02/2008 18:26

Wow, super fast replies. Thank you thank you thank you. Trying to stay calm and positive. PortandLemon, thanks especially for explaining the tests, I knew what they measured, but not what it all meant. I haven't actually seen the results myself - I called the clinic on Friday and was told if anything had been high risk I would have heard within 3 days so everything was fine. Obviously not the case. Of course I then spent the weekend telling everyone the news - had only told a few friends and my parents I was pg uptil then.

Justjules, hope you get your (good) results back soon!

OP posts:
whichwitch · 12/02/2008 18:38

Hello - Wanted to say another one who was in the same boat as you - 12 week scan seemed normal but came out with very poor odds for edwards (and another) after blood tests - having spoken to the consultant who was adamant that it was not Downs - I went ahead and had an amnio - all Normal and Lovely DD just turned 6 - I am sure you will be writing a post like this in the future. I do know how you feel we had also just announced the pregnancy in public and I had a couple of weeks that I needed to wait - I remember trying to detach myself in the interim period - its a great feeling when the test results come back - I got a call 2 days after the anmio indicating 99.99 negative results.

whichwitch · 12/02/2008 18:39

Hit Post too soon - wanted to wish you good luck and send positive vibes.

NAB3wishesfor2008 · 12/02/2008 19:14

My son had 2 markers and they said it could be Edward's syndrome but didn't say Downs. If you have any Q I will try and help. In the meantime, call the ante natal reuslts line. They are lovely and very helpful. Do you know the sex of the baby?

Rolf · 12/02/2008 19:26

Not an expert but I'd have expected a baby with Edwards to have abnormalities apparent on the scan.

A scan showed that my DD had agenesis of the corpus callosum, which is a marker for Edwards. She doesn't have Edwards and is fine. Hope your baby is too.

x

mrslurkalot · 12/02/2008 19:37

Hi there, so sorry you are going through this. I had high risk results for both downs and edwards following combined nuchal scan and blood tests (my risk for edwards was 1 in 7) I had a CVS test and all was fine. I also would have thought that some markers would have been evident at your scan. I remember very clearly how awful this time was and I hope your outcome is as positive as ours was. I would second ringing ARC - they were brilliant when I called them and really helped me understand the risk. Take very good care of yourself xxx

Original poster
whinegums · 14/02/2008 13:14

Hello, thanks again for the messages. Just wanted to update - had the scan this morning and everything looked absolutely fine - no problems spotted at all, and the doctor was very reassuring that everything is ok. I have had the amnio anyway, and will get fast results by Monday. Even though everything looked ok, I want to be 100% sure.

NAB - we found out for definite it's a boy!

OP posts:
NAB3wishesfor2008 · 14/02/2008 13:16

That is great and also good in a way as Edward's is more common in girls.

Let us know how the results go. I decided not to have an amnio but I understand your need to know for sure.

whichwitch · 14/02/2008 13:29

Congrats - and look forward to that great feeling when you get those results - I was told at mine that he saw nothing and would expect to be able to tell if there was a problem - sorry you had to go through this but it is forward with a smile now!

birdiezmom · 26/03/2014 07:37

I just had the same diagnosis at 13 weeks but all ultrasounds look great. You all made me feel so much better. Glad toknow im not alone.

squizita · 26/03/2014 08:39

www.mumsnet.com/Talk/pregnancy/2018786-Nuchal-results-on-mums-over-35?pg=3

In case anyone reads this and worries... low risk for Downs over 30 (1) isn't that 'abnormal' (see thread above) and crucially it doesn't relate to any increased risk of anything else.

Princess2k16 · 15/09/2016 21:14

I'd like to introduce myself my name is kerry and we run a foundation for children with life limiting disorders.Our daughter has Edwards syndrome Full trisomy 18 and it needs to made awareness off as now more and more pregnancys in the UK are now being diagnosed we sadley didn't know until she was 6 weeks old she is now 2 and still fighting it every day.
If Anyone has or knows of anyone with Edwards syndrome Trisomy we would like to support you along the journey as we have first hand with hospitals who refuse treatment as it says incompatible to life I'm sorry that's a load of rubbish there is hope there is survivors and we would like to support your through it .
If this thread is on the wrong posting my apologises I am new to mums net so needing guidance to get this post around in the right threads xxx

Oysterbabe · 15/09/2016 22:23

Hi Princess,

You would be better to start a new thread as this post is likely to be missed. You could also post it in the Antenatal testing section.
I wish you and your family well Flowers

Princess2k16 · 15/09/2016 22:57

Hi oysterbabe.
Thankyou for a reply I shall try and look for that thread in the morning and post a new thread too.
Thankyou Flowers

Babymum123 · 24/11/2016 17:05

Hi all,

Wanted some advice really. I had my 13+5 scan yesterday and all looked okay on my scan. Had my bloods done for downs and Edwards and my risk for Edwards come back 1 in 22. I am awaiting harmony tests to come back but it's two weeks. Had anyone had similar situation ?

sweetchilli77 · 24/11/2016 19:30

Babymum123 go to "antenatal tests" board they have loads of people in the same boat, very good advise and experience with this. I came back as 1in 5 for downs. I used the threads and it was so helpful

Marina1050 · 22/05/2018 04:46

Hi! If anyone is reading it (me myself was when I was found high risk for Edwards).
I had 1:20 risk for Trisomy 18. I did an amnio the next day. It was fine. Now my boy is 4 mounths.

Mumof3prince · 28/09/2018 05:58

I was told of high risk for edward syndrome 1:65 but ultrasound looks perfectly normally.. im feeling very depressed and exhausted. im now 19 weeks

Alh14 · 03/03/2019 20:51

Hi ladies. Really hoping I can ease myself my joining this group. Sadly in Sept 2018 I went for my 12 week scan and got very bad news. Blood testing was 1 in 70 for downs, 1 in 4 for patau and 1 in 2 for Edwards syndrome. Sadly after having a CVS done we got a full diagnosis for trisomy 18 was completely crushed. We find out our little baby was a boy my 1st son. I am now currently in 8th week of new pregnancy and I have my scan next month I am now starting to feel more anxious as to if this could happen again. If there is anyone that can offer support I would really appreciate it. Thankyou